LOCUS       NM_000198               1675 bp    mRNA    linear   PRI 02-APR-2024
DEFINITION  Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and
            steroid delta-isomerase 2 (HSD3B2), transcript variant 1, mRNA.
ACCESSION   NM_000198
VERSION     NM_000198.4
KEYWORDS    RefSeq; MANE Select.
SOURCE      Homo sapiens (human)
  ORGANISM  Homo sapiens
            Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
            Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
            Catarrhini; Hominidae; Homo.
REFERENCE   1  (bases 1 to 1675)
  AUTHORS   Makretskaya,N., Kalinchenko,N., Tebieva,I., Ionova,S.,
            Zinchenko,R., Marakhonov,A. and Tiulpakov,A.
  TITLE     High carrier frequency of a nonsense p.Trp230* variant in HSD3B2
            gene in Ossetians
  JOURNAL   Front Endocrinol (Lausanne) 14, 1146768 (2023)
   PUBMED   37274334
  REMARK    GeneRIF: High carrier frequency of a nonsense p.Trp230* variant in
            HSD3B2 gene in Ossetians.
            Publication Status: Online-Only
REFERENCE   2  (bases 1 to 1675)
  AUTHORS   Mellone,S., Bertelli,E., Roviglione,B., Vurchio,D., Ronzani,S.,
            Secco,A., Felici,E., Strozzi,M.M., Schena,F. and Giordano,M.
  TITLE     Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on
            10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting
            Congenital Adrenal Hyperplasia
  JOURNAL   Genes (Basel) 13 (12), 2190 (2022)
   PUBMED   36553457
  REMARK    GeneRIF: Co-Occurrence of a Pathogenic HSD3B2 Variant and a
            Duplication on 10q22.3-q23.2 Detected in Newborn Twins with
            Salt-Wasting Congenital Adrenal Hyperplasia.
            Publication Status: Online-Only
REFERENCE   3  (bases 1 to 1675)
  AUTHORS   Haenig,C., Atias,N., Taylor,A.K., Mazza,A., Schaefer,M.H., Russ,J.,
            Riechers,S.P., Jain,S., Coughlin,M., Fontaine,J.F., Freibaum,B.D.,
            Brusendorf,L., Zenkner,M., Porras,P., Stroedicke,M., Schnoegl,S.,
            Arnsburg,K., Boeddrich,A., Pigazzini,L., Heutink,P., Taylor,J.P.,
            Kirstein,J., Andrade-Navarro,M.A., Sharan,R. and Wanker,E.E.
  TITLE     Interactome Mapping Provides a Network of Neurodegenerative Disease
            Proteins and Uncovers Widespread Protein Aggregation in Affected
            Brains
  JOURNAL   Cell Rep 32 (7), 108050 (2020)
   PUBMED   32814053
REFERENCE   4  (bases 1 to 1675)
  AUTHORS   Tetti,M., Castellano,I., Venziano,F., Magnino,C., Veglio,F.,
            Mulatero,P. and Monticone,S.
  TITLE     Role of Cryptochrome-1 and Cryptochrome-2 in Aldosterone-Producing
            Adenomas and Adrenocortical Cells
  JOURNAL   Int J Mol Sci 19 (6), 1675 (2018)
   PUBMED   29874863
  REMARK    GeneRIF: Independent silencing of CRY1 and CRY2 genes in HAC15
            cells resulted in a mild upregulation of HSD3B2 without affecting
            HSD3B1 expression. In conclusion, our results support the
            hypothesis that CRY1 and CRY2, being AngII-regulated genes, and
            showing a differential expression in APAs when compared with the
            adjacent adrenal cortex, might be involved in adrenal cell
            function, and in the regulation of aldosterone production
            Publication Status: Online-Only
REFERENCE   5  (bases 1 to 1675)
  AUTHORS   Osinski,M., Wirstlein,P., Wender-Ozegowska,E., Mikolajczyk,M.,
            Jagodzinski,P.P. and Szczepanska,M.
  TITLE     HSD3B2, HSD17B1, HSD17B2, ESR1, ESR2 and AR expression in infertile
            women with endometriosis
  JOURNAL   Ginekol Pol 89 (3), 125-134 (2018)
   PUBMED   29664547
  REMARK    GeneRIF: Observed significant increase in HSD3B2 and ESR1
            transcripts in follicular eutropic endometrium from infertile women
            with endometriosis may be related to abnormal biological effect of
            E2 in endometrium, further affecting the development of human
            embryos.
REFERENCE   6  (bases 1 to 1675)
  AUTHORS   Rheaume,E., Simard,J., Morel,Y., Mebarki,F., Zachmann,M.,
            Forest,M.G., New,M.I. and Labrie,F.
  TITLE     Congenital adrenal hyperplasia due to point mutations in the type
            II 3 beta-hydroxysteroid dehydrogenase gene
  JOURNAL   Nat Genet 1 (4), 239-245 (1992)
   PUBMED   1363812
REFERENCE   7  (bases 1 to 1675)
  AUTHORS   Lachance,Y., Luu-The,V., Verreault,H., Dumont,M., Rheaume,E.,
            Leblanc,G. and Labrie,F.
  TITLE     Structure of the human type II 3 beta-hydroxysteroid
            dehydrogenase/delta 5-delta 4 isomerase (3 beta-HSD) gene: adrenal
            and gonadal specificity
  JOURNAL   DNA Cell Biol 10 (10), 701-711 (1991)
   PUBMED   1741954
REFERENCE   8  (bases 1 to 1675)
  AUTHORS   Rheaume,E., Lachance,Y., Zhao,H.F., Breton,N., Dumont,M., de
            Launoit,Y., Trudel,C., Luu-The,V., Simard,J. and Labrie,F.
  TITLE     Structure and expression of a new complementary DNA encoding the
            almost exclusive 3 beta-hydroxysteroid dehydrogenase/delta 5-delta
            4-isomerase in human adrenals and gonads
  JOURNAL   Mol Endocrinol 5 (8), 1147-1157 (1991)
   PUBMED   1944309
REFERENCE   9  (bases 1 to 1675)
  AUTHORS   Morrison,N., Nickson,D.A., McBride,M.W., Mueller,U.W., Boyd,E. and
            Sutcliffe,R.G.
  TITLE     Regional chromosomal assignment of human 3-beta-hydroxy-5-ene
            steroid dehydrogenase to 1p13.1 by non-isotopic in situ
            hybridisation
  JOURNAL   Hum Genet 87 (2), 223-225 (1991)
   PUBMED   2066113
REFERENCE   10 (bases 1 to 1675)
  AUTHORS   Zachmann,M., Forest,M.G. and De Peretti,E.
  TITLE     3 beta-hydroxysteroid dehydrogenase deficiency. Follow-up study in
            a girl with pubertal bone age
  JOURNAL   Horm Res 11 (6), 292-302 (1979)
   PUBMED   295036
COMMENT     REVIEWED REFSEQ: This record has been curated by NCBI staff. The
            reference sequence was derived from AV705363.1, BC038419.1 and
            AK222997.1.
            This sequence is a reference standard in the RefSeqGene project.
            
            On Nov 23, 2018 this sequence version replaced NM_000198.3.
            
            Summary: The protein encoded by this gene is a bifunctional enzyme
            that catalyzes the oxidative conversion of
            delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion
            of ketosteroids. It plays a crucial role in the biosynthesis of all
            classes of hormonal steroids. This gene is predominantly expressed
            in the adrenals and the gonads. Mutations in this gene are
            associated with 3-beta-hydroxysteroid dehydrogenase, type II,
            deficiency. Alternatively spliced transcript variants have been
            found for this gene. [provided by RefSeq, Oct 2009].
            
            Transcript Variant: This variant (1) represents the predominant
            transcript. Variants 1 and 2 encode the same protein.
            
            Publication Note:  This RefSeq record includes a subset of the
            publications that are available for this gene. Please see the Gene
            record to access additional publications.
            
            ##Evidence-Data-START##
            Transcript exon combination :: AK313413.1, AK222997.1 [ECO:0000332]
            ##Evidence-Data-END##
            
            ##RefSeq-Attributes-START##
            MANE Ensembl match     :: ENST00000369416.4/ ENSP00000358424.3
            RefSeq Select criteria :: based on conservation, expression,
                                      longest protein
            ##RefSeq-Attributes-END##
            COMPLETENESS: full length.
PRIMARY     REFSEQ_SPAN         PRIMARY_IDENTIFIER PRIMARY_SPAN        COMP
            1-346               AV705363.1         67-412
            347-1669            BC038419.1         352-1674
            1670-1675           AK222997.1         1698-1703
FEATURES             Location/Qualifiers
     source          1..1675
                     /organism="Homo sapiens"
                     /mol_type="mRNA"
                     /db_xref="taxon:9606"
                     /chromosome="1"
                     /map="1p12"
     gene            1..1675
                     /gene="HSD3B2"
                     /gene_synonym="HSD3B; HSDB; SDR11E2"
                     /note="hydroxy-delta-5-steroid dehydrogenase, 3 beta- and
                     steroid delta-isomerase 2"
                     /db_xref="GeneID:3284"
                     /db_xref="HGNC:HGNC:5218"
                     /db_xref="MIM:613890"
     exon            1..53
                     /gene="HSD3B2"
                     /gene_synonym="HSD3B; HSDB; SDR11E2"
                     /inference="alignment:Splign:2.1.0"
     exon            54..284
                     /gene="HSD3B2"
                     /gene_synonym="HSD3B; HSDB; SDR11E2"
                     /inference="alignment:Splign:2.1.0"
     CDS             143..1261
                     /gene="HSD3B2"
                     /gene_synonym="HSD3B; HSDB; SDR11E2"
                     /EC_number="1.1.1.145"
                     /EC_number="5.3.3.1"
                     /note="short chain dehydrogenase/reductase family 11E,
                     member 2; 3-beta-hydroxy-5-ene steroid dehydrogenase;
                     progesterone reductase; 3-beta-hydroxy-Delta(5)-steroid
                     dehydrogenase; 3 beta-HSD type II; delta 5-delta
                     4-isomerase type II; 3 beta-hydroxysteroid dehydrogenase
                     type II, delta 5-delta 4-isomerase type II, 3 beta-HSD
                     type II; 3-beta-HSD II; 3 beta-hydroxysteroid
                     dehydrogenase/Delta 5-->4-isomerase type II; 3-beta-HSD
                     adrenal and gonadal type"
                     /codon_start=1
                     /product="3 beta-hydroxysteroid dehydrogenase/Delta
                     5-->4-isomerase type 2"
                     /protein_id="NP_000189.1"
                     /db_xref="CCDS:CCDS902.1"
                     /db_xref="GeneID:3284"
                     /db_xref="HGNC:HGNC:5218"
                     /db_xref="MIM:613890"
                     /translation="MGWSCLVTGAGGLLGQRIVRLLVEEKELKEIRALDKAFRPELRE
                     EFSKLQNRTKLTVLEGDILDEPFLKRACQDVSVVIHTACIIDVFGVTHRESIMNVNVK
                     GTQLLLEACVQASVPVFIYTSSIEVAGPNSYKEIIQNGHEEEPLENTWPTPYPYSKKL
                     AEKAVLAANGWNLKNGDTLYTCALRPTYIYGEGGPFLSASINEALNNNGILSSVGKFS
                     TVNPVYVGNVAWAHILALRALRDPKKAPSVRGQFYYISDDTPHQSYDNLNYILSKEFG
                     LRLDSRWSLPLTLMYWIGFLLEVVSFLLSPIYSYQPPFNRHTVTLSNSVFTFSYKKAQ
                     RDLAYKPLYSWEEAKQKTVEWVGSLVDRHKETLKSKTQ"
     exon            285..449
                     /gene="HSD3B2"
                     /gene_synonym="HSD3B; HSDB; SDR11E2"
                     /inference="alignment:Splign:2.1.0"
     exon            450..1675
                     /gene="HSD3B2"
                     /gene_synonym="HSD3B; HSDB; SDR11E2"
                     /inference="alignment:Splign:2.1.0"
     regulatory      1649..1654
                     /regulatory_class="polyA_signal_sequence"
                     /gene="HSD3B2"
                     /gene_synonym="HSD3B; HSDB; SDR11E2"
                     /note="hexamer: AATAAA"
     polyA_site      1675
                     /gene="HSD3B2"
                     /gene_synonym="HSD3B; HSDB; SDR11E2"
                     /note="major polyA site"
ORIGIN      
        1 gaggcagtaa ggacttggac tcctctgtcc agcttttaac aatctaagtt acgccctctt
       61 ctgggtcacg ctagaatcag atctgctctc cagcatcttc tgtttcctgg caagtgtttc
      121 ctgctacttt ggattggcca cgatgggctg gagctgcctt gtgacaggag caggagggct
      181 tctgggtcag aggatcgtcc gcctgttggt ggaagagaag gaactgaagg agatcagggc
      241 cttggacaag gccttcagac cagaattgag agaggaattt tctaagctcc agaacaggac
      301 caagctgact gtacttgaag gagacattct ggatgagcca ttcctgaaaa gagcctgcca
      361 ggacgtctcg gtcgtcatcc acaccgcctg tatcattgat gtctttggtg tcactcacag
      421 agagtccatc atgaatgtca atgtgaaagg tacccagcta ctgttggagg cctgtgtcca
      481 agccagtgtg ccagtcttca tctacaccag tagcatagag gtagccgggc ccaactccta
      541 caaggaaatc atccagaacg gccacgaaga agagcctctg gaaaacacat ggcccactcc
      601 atacccgtac agcaaaaagc ttgctgagaa ggctgtgctg gcggctaatg ggtggaatct
      661 aaaaaatggt gataccttgt acacttgtgc gttaagaccc acatatatct atggggaagg
      721 aggcccattc ctttctgcca gtataaatga ggccctgaac aacaatggga tcctgtcaag
      781 tgttggaaag ttctctacag tcaacccagt ctatgttggc aacgtggcct gggcccacat
      841 tctggccttg agggctctgc gggaccccaa gaaggcccca agtgtccgag gtcaattcta
      901 ttacatctca gatgacacgc ctcaccaaag ctatgataac cttaattaca tcctgagcaa
      961 agagtttggc ctccgccttg attccagatg gagccttcct ttaaccctga tgtactggat
     1021 tggcttcctg ctggaagtag tgagcttcct actcagccca atttactcct atcaaccccc
     1081 cttcaaccgc cacacagtca cattatcaaa tagtgtgttc accttctctt acaagaaggc
     1141 tcagcgagat ctggcgtata agccactcta cagctgggag gaagccaagc agaaaaccgt
     1201 ggagtgggtt ggttcccttg tggaccggca caaggagacc ctgaagtcca agactcagtg
     1261 atttaaggat gacagagatg tgcatgtggg tattgttagg aaatgtcatc aaactccacc
     1321 cacctggctt catacagaag gcaacagggg cacaagccca ggtcctgctg cctctctttc
     1381 acacaatgcc caacttactg tcttcttcat gtcatcaaaa tctgcacagt cactggccca
     1441 accagaactt tctgtcctaa tcatacacca gaagacaaac aatatgattt gctgttacca
     1501 aatctcagtg gctgattctg aacaattgtg gtctctctta acttgaggtt ctcttttgac
     1561 taatagagct ccatttcccc tcttaaatga gaaagcattt cttttctctt taatctccta
     1621 ttccttcaca cagttcaaca taaagagcaa taaatgtttt aatgcttaac atgga
//
